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Journal Abstract Search

310 related items for PubMed ID: 32248831

  • 1.
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  • 2. Six-Minute Walk Distance Is a Useful Outcome Measure to Detect Motor Decline in Treated Late-Onset Pompe Disease Patients.
    Claeys KG, D'Hondt A, Fache L, Peers K, Depuydt CE.
    Cells; 2022 Jan 20; 11(3):. PubMed ID: 35159144
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  • 3. Pompe disease in Austria: clinical, genetic and epidemiological aspects.
    Löscher WN, Huemer M, Stulnig TM, Simschitz P, Iglseder S, Eggers C, Moser H, Möslinger D, Freilinger M, Lagler F, Grinzinger S, Reichhardt M, Bittner RE, Schmidt WM, Lex U, Brunner-Krainz M, Quasthoff S, Wanschitz JV.
    J Neurol; 2018 Jan 20; 265(1):159-164. PubMed ID: 29181627
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  • 4. Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group.
    Filosto M, Cotti Piccinelli S, Ravaglia S, Servidei S, Moggio M, Musumeci O, Donati MA, Pegoraro E, Di Muzio A, Maggi L, Tonin P, Marrosu G, Sancricca C, Lerario A, Sacchini M, Semplicini C, Bozzoni V, Telese R, Bonanno S, Piras R, Maioli MA, Ricci G, Vercelli L, Galvagni A, Gallo Cassarino S, Caria F, Mongini T, Siciliano G, Padovani A, Toscano A.
    Adv Ther; 2019 May 20; 36(5):1177-1189. PubMed ID: 30879255
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  • 5. Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.
    Montagnese F, Barca E, Musumeci O, Mondello S, Migliorato A, Ciranni A, Rodolico C, De Filippi P, Danesino C, Toscano A.
    J Neurol; 2015 May 20; 262(4):968-78. PubMed ID: 25673129
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  • 8. Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).
    Ripolone M, Violano R, Ronchi D, Mondello S, Nascimbeni A, Colombo I, Fagiolari G, Bordoni A, Fortunato F, Lucchini V, Saredi S, Filosto M, Musumeci O, Tonin P, Mongini T, Previtali S, Morandi L, Angelini C, Mora M, Sandri M, Sciacco M, Toscano A, Comi GP, Moggio M.
    Neuropathol Appl Neurobiol; 2018 Aug 20; 44(5):449-462. PubMed ID: 28574618
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  • 9. Long-term effects of enzyme replacement therapy in an elderly cohort of late-onset Pompe disease.
    Winkler M, von Landenberg C, Kuchenbecker K, Reimann J, Kornblum C.
    Neuromuscul Disord; 2022 Mar 20; 32(3):195-205. PubMed ID: 35120758
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  • 11. Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial.
    Strothotte S, Strigl-Pill N, Grunert B, Kornblum C, Eger K, Wessig C, Deschauer M, Breunig F, Glocker FX, Vielhaber S, Brejova A, Hilz M, Reiners K, Müller-Felber W, Mengel E, Spranger M, Schoser B.
    J Neurol; 2010 Jan 20; 257(1):91-7. PubMed ID: 19649685
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  • 13. Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.
    Chawla T, Preethish-Kumar V, Polavarapu K, Vengalil S, Bardhan M, Puri R, Verma J, Christopher R, Supriya M, Nashi S, Prasad C, Nadeesh B, Nalini A.
    J Neuromuscul Dis; 2022 Jan 20; 9(2):261-273. PubMed ID: 34864681
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  • 14. The impact of interrupting enzyme replacement therapy in late-onset Pompe disease.
    Wenninger S, Gutschmidt K, Wirner C, Einvag K, Montagnese F, Schoser B.
    J Neurol; 2021 Aug 20; 268(8):2943-2950. PubMed ID: 33625582
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  • 15. Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.
    Rairikar MV, Case LE, Bailey LA, Kazi ZB, Desai AK, Berrier KL, Coats J, Gandy R, Quinones R, Kishnani PS.
    Mol Genet Metab; 2017 Nov 20; 122(3):99-107. PubMed ID: 28951071
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  • 18. Survival and long-term outcomes in late-onset Pompe disease following alglucosidase alfa treatment: a systematic review and meta-analysis.
    Schoser B, Stewart A, Kanters S, Hamed A, Jansen J, Chan K, Karamouzian M, Toscano A.
    J Neurol; 2017 Apr 20; 264(4):621-630. PubMed ID: 27372449
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  • 19. White matter lesions in treated late onset Pompe disease are not different to matched controls.
    Schneider I, Hensel O, Zierz S.
    Mol Genet Metab; 2019 Jun 20; 127(2):128-131. PubMed ID: 31153821
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  • 20. Effect of long term enzyme replacement therapy in late onset Pompe disease: A single-centre experience.
    Papadimas GK, Anagnostopoulos C, Xirou S, Michelakakis H, Terzis G, Mavridou I, Kararizou E, Papadopoulos C.
    Neuromuscul Disord; 2021 Feb 20; 31(2):91-100. PubMed ID: 33451932
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